PIGL: Phosphatidylinositol Glycan Anchor Biosynthesis Class L
Gene encoding the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase involved in GPI anchor biosynthesis
Gene Information Card
| Symbol | PIGL |
|---|---|
| Full Name | Phosphatidylinositol glycan anchor biosynthesis class L |
| Gene Type | Protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 9487 ncbi.nlm.nih.gov/gene/9487 |
| Ensembl ID | ENSG00000108474 |
| UniProt ID | Q9Y2B2 |
| OMIM ID | 605947 |
| HGNC ID | 8967 |
| Aliases | CHIME, GPI7, MGC26594, N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase |
Description
PIGL encodes the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase, an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) anchor biosynthesis: de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol (GlcNAc-PI) to glucosaminyl-phosphatidylinositol (GlcN-PI). This reaction is essential for the formation of GPI anchors that tether proteins to the cell membrane. Mutations in PIGL cause CHIME syndrome (Zunich neuroectodermal syndrome), a rare autosomal recessive disorder characterized by colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and ear anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| CHIME syndrome (Zunich neuroectodermal syndrome) | Loss-of-function mutations in PIGL impair GPI anchor biosynthesis, leading to deficient cell surface expression of GPI-anchored proteins | OMIM #280000; ClinVar; multiple case reports |
| Congenital disorder of glycosylation due to PIGL deficiency | Biallelic pathogenic variants reduce de-N-acetylase activity, disrupting GPI anchor assembly | OMIM #605947; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Heart | 6.5 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.3 | Low |
| Testis | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Moderate expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 8.7 | Low expression |
| HepG2 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | Rare (found in CHIME syndrome) | Reduced enzymatic activity; loss of function |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein expression |
| c.640C>T (p.Arg214*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in PIGL are loss-of-function, leading to reduced or absent de-N-acetylase activity and impaired GPI anchor biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PIGL.
Dominant Negative (DN)
No dominant-negative effects have been described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506) | • N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase activity (GO:0015929) |
| • GPI anchor biosynthetic process (GO:0006506) | • membrane (GO:0016020) |
Pathways
• Glycosylphosphatidylinositol (GPI)-anchor biosynthesis (KEGG: hsa00563)
• Metabolism of GPI-anchored proteins (Reactome: R-HSA-162791)
Protein Summary
The PIGL protein (UniProt Q9Y2B2) is a 252-amino acid endoplasmic reticulum membrane protein that functions as the N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase. It catalyzes the removal of the acetyl group from GlcNAc-PI to form GlcN-PI, a critical step in GPI anchor synthesis. The enzyme is part of the GPI-N-acetylglucosaminyltransferase complex. Defects in this protein cause CHIME syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGL Knockout HEK293 Cell Line | EDJ-KQ50873 | Human | 9487 | Details Get a Quote |
| PIGL Knockout HeLa Cell Line | EDJ-KQ55178 | Human | 9487 | Details Get a Quote |
| PIGL Knockout A-549 Cell Line | EDJ-KQ63658 | Human | 9487 | Details Get a Quote |
| PIGL Knockout HCT 116 Cell Line | EDJ-KQ72117 | Human | 9487 | Details Get a Quote |
